Identity
HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
GOSPEL,RLP1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 353116
MIM: 614092
HGNC: 26814
Ensembl: ENSG00000188026
Variants:
dbSNP: 353116
ClinVar: 353116
TCGA: ENSG00000188026
COSMIC: RILPL1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188026 | ENST00000376874 | Q5EBL4 |
| ENSG00000188026 | ENST00000636882 | A0A1B0GVV3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37864208 | 2023 | A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy. | 1 |
| 37864208 | 2023 | A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy. | 1 |
| 35148830 | 2022 | The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. | 14 |
| 35148830 | 2022 | The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. | 14 |
| 31428781 | 2019 | RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits. | 50 |
| 31428781 | 2019 | RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits. | 50 |
| 27282776 | 2016 | Enhancement by GOSPEL protein of GAPDH aggregation induced by nitric oxide donor and its inhibition by NAD(.). | 2 |
| 27282776 | 2016 | Enhancement by GOSPEL protein of GAPDH aggregation induced by nitric oxide donor and its inhibition by NAD(.). | 2 |
Citation
Dessen P
RILPL1 (Rab interacting lysosomal protein like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72643/rilpl1-(rab-interacting-lysosomal-protein-like-1)
